Canonical Allele Identifier: CA387377082

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132642290G>A , CM000674.2:g.132642290G>A	GRCh38
NC_000012.11:g.133218876G>A , CM000674.1:g.133218876G>A	GRCh37
NC_000012.10:g.131728949G>A	NCBI36
NG_033840.1:g.50235C>T , LRG_789:g.50235C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006231.4:c.5060C>T MANE Select	NP_006222.2:p.Ser1687Phe
ENST00000320574.10:c.5060C>T MANE Select	ENSP00000322570.5:p.Ser1687Phe
NM_006231.3:c.5060C>T , LRG_789t1:c.5060C>T	NP_006222.2:p.Ser1687Phe
ENST00000320574.9:c.5060C>T	ENSP00000322570.5:p.Ser1687Phe
ENST00000416953.3:n.2601C>T
ENST00000535270.5:c.4979C>T	ENSP00000445753.1:p.Ser1660Phe
ENST00000537064.5:c.*4811C>T	ENSP00000442578.1:n.*4811C>T
ENST00000544870.6:c.2733C>T	ENSP00000479927.2:n.2733C>T
ENST00000672002.1:c.2733C>T	ENSP00000500233.1:n.2733C>T
ENST00000672742.1:c.*5266C>T	ENSP00000500279.1:n.*5266C>T
ENST00000699981.1:n.2714C>T
ENST00000699982.1:c.4914C>T
ENST00000699983.1:c.5618C>T
ENST00000699984.1:c.4914C>T
XM_011534795.1:c.5060C>T	XP_011533097.1:p.Ser1687Phe
XM_011534795.3:c.5060C>T	XP_011533097.1:p.Ser1687Phe
XM_011534796.1:c.4931C>T	XP_011533098.1:p.Ser1644Phe
XM_011534797.1:c.4139C>T	XP_011533099.1:p.Ser1380Phe
XM_011534797.3:c.4139C>T	XP_011533099.1:p.Ser1380Phe
XM_011534798.1:c.3722C>T	XP_011533100.1:p.Ser1241Phe
XM_011534799.1:c.5060C>T	XP_011533101.1:p.Ser1687Phe
XM_011534799.2:c.5060C>T	XP_011533101.1:p.Ser1687Phe
XM_011534800.1:c.5060C>T	XP_011533102.1:p.Ser1687Phe
XM_011534802.1:c.2048C>T	XP_011533104.1:p.Ser683Phe
XM_011534802.3:c.2048C>T	XP_011533104.1:p.Ser683Phe
XR_002957338.1:n.5264C>T
XR_002957339.1:n.5264C>T
XR_941395.2:n.5313C>T